Search Results - "Tozza, S"

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus by Grandis, M, Obici, L, Luigetti, M, Briani, C, Benedicenti, F, Bisogni, G, Canepa, M, Cappelli, F, Danesino, C, Fabrizi, G M, Fenu, S, Ferrandes, G, Gemelli, C, Manganelli, F, Mazzeo, A, Melchiorri, L, Perfetto, F, Pradotto, L G, Rimessi, P, Tini, G, Tozza, S, Trevisan, L, Pareyson, D, Mandich, P

“…Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of…”
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Direct Differential Photometric Stereo Shape Recovery of Diffuse and Specular Surfaces by Tozza, S., Mecca, R., Duocastella, M., Del Bue, A.

“…Recovering the 3D shape of an object from shading is a challenging problem due to the complexity of modeling light propagation and surface reflections…”
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Nerve conduction velocity in CMT1A: what else can we tell? by Manganelli, F., Pisciotta, C., Reilly, M. M., Tozza, S., Schenone, A., Fabrizi, G. M., Cavallaro, T., Vita, G., Padua, L., Gemignani, F., Laurà, M., Hughes, R. A. C., Solari, A., Pareyson, D., Santoro, L.

“…Background and purpose Charcot‐Marie‐Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant…”
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Clinical criteria and diagnostic assessment of fibromyalgia: position statement of the Italian Society of Neurology-Neuropathic Pain Study Group by Devigili, G., Di Stefano, G., Donadio, V., Frattale, I., Mantovani, E., Nolano, M., Occhipinti, G., Provitera, V., Quitadamo, S., Tamburin, S., Toscano, A., Tozza, S., Truini, A., Valeriani, M., de Tommaso, M.

“…Background The role of central and/or peripheral nervous system dysfunction is basically fundamental in fibromyalgia. Aim The aim of this position statement on…”
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Diffuse brain connectivity changes in Charcot–Marie–Tooth type 1a patients: a resting‐state functional magnetic resonance imaging study by Pontillo, G., Tozza, S., Perillo, T., Cocozza, S., Dubbioso, R., Severi, D., Iodice, R., Tedeschi, E., Elefante, A., Brunetti, A., Manganelli, F., Quarantelli, M.

“…Evidence was found of diffuse functional reorganization involving multiple large‐scale networks in the Charcot–Marie–Tooth disease type 1A (CMT1A) brain,…”
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Motor performance deterioration accelerates after 50 years of age in Charcot‐Marie‐Tooth type 1A patients by Tozza, S., Bruzzese, D., Pisciotta, C., Iodice, R., Esposito, M., Dubbioso, R., Ruggiero, L., Topa, A., Spina, E., Santoro, L., Manganelli, F.

“…Background and purpose The aim of our study was to describe, by a case‐control and cross‐sectional design, the correlation between clinical impairment and age…”
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Seronegative occult HBV reactivation complicated with fulminant acute liver failure after rituximab for chronic inflammatory demyelinating polyneuropathy by Buonomo, A. R., Viceconte, G., Scotto, R., De Angelis, M., Tozza, S., Manganelli, F., Lanza, A. G., Di Costanzo, G. G., Gentile, I.

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174P Risdiplam in type 2 and 3 spinal muscular atrophy: results of a cohort of adult Italian patients. A 3-year follow-up by Lucia, R., Russo, A., Iodice, R., Dubbioso, R., Tozza, S., Esposito, G., Zoppi, D.

“…We aimed to retrospectively investigate safety and efficacy of Risdiplam in a small cohort of Italian adult type 2 and non-ambulant type 3 Spinal Muscular…”
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Global longitudinal strain and quantitative sensory testing in pre-symptomatic patients with mutation for transthyretin amyloidosis by Canciello, G, Tozza, S, Lombardi, R, Nolano, M, Todde, G, Severi, D, Borrelli, F, Acampa, W, Esposito, G, Manganelli, F, Losi, M A

“…Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, autosomal dominant, and devastating disease. If untreated, the disease is fatal…”
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Neuropsychological and electrophysiological long-term follow-up in the adult form of Niemann-Pick disease type C by Tozza, S., Dubbioso, R., Iodice, R., Topa, A., Esposito, M., Ruggiero, L., Spina, E., Iovino, A., Santoro, L., Manganelli, F.

“…Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment…”
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Are novel outcome measures for Charcot–Marie–Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study by Pazzaglia, Costanza, Padua, Luca, Pareyson, Davide, Schenone, Angelo, Aiello, Alessia, Fabrizi, Gian Maria, Cavallaro, Tiziana, Santoro, Lucio, Manganelli, Fiore, Coraci, Daniele, Gemignani, Franco, Vitetta, Francesca, Quattrone, Aldo, Mazzeo, Anna, Russo, Massimo, Vita, Giuseppe

“…•CMT slowly progress over time, appropriate outcome measures are needed to detect it.•StepWatch™ Activity Monitor reflect real-life function in CMT…”
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Measuring quality of life impairment in skeletal muscle channelopathies by Sansone, V. A., Ricci, C., Montanari, M., Apolone, G., Rose, M., Meola, G.

“…Background and purpose Fatigue and pain have been previously shown to be important determinants for decreasing quality of life (QoL) in one report in patients…”
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Novel outcome measures for Charcot−Marie−Tooth disease: validation and reliability of the 6-min walk test and StepWatch™ Activity Monitor and identification of the walking features related to higher quality of life by Padua, L., Pazzaglia, C., Pareyson, D., Schenone, A., Aiello, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Manganelli, F., Gemignani, F., Vitetta, F., Quattrone, A., Mazzeo, A., Russo, M., Vita, G.

“…Background and purpose Charcot−Marie−Tooth (CMT) disease is the most common inherited neuropathy, but therapeutic options have been limited to symptom…”
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Nerve conduction velocity in CMT 1A: what else can we tell? by Manganelli, F., Pisciotta, C., Reilly, M. M., Tozza, S., Schenone, A., Fabrizi, G. M., Cavallaro, T., Vita, G., Padua, L., Gemignani, F., Laurà, M., Hughes, R. A. C., Solari, A., Pareyson, D., Santoro, L.

“…Background and purpose Charcot‐Marie‐Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant…”
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A comparative analysis of denoising algorithms for extragalactic imaging surveys by Roscani, V, Tozza, S, Castellano, M, Merlin, E, Ottaviani, D, Falcone, M, Fontana, A

“…A&A 643, A43 (2020) We present a comprehensive analysis of the performance of noise-reduction (``denoising'') algorithms to determine whether they provide…”
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Seronegative occult HBV reactivation complicated with fulminant acute liver failure after rituximab for chronic inflammatory demyelinating polyneuropathy by Buonomo, A R, Viceconte, G, Scotto, R, De Angelis, M, Tozza, S, Manganelli, F, Lanza, A G, Di Costanzo, G G, Gentile, I

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